RPE65

..The transcription factor p63 plays a critical role in these steps as evident by a complete lack of these structures in p63 null mice...

..The critical isomerization step in this pathway is catalyzed by Rpe65. Rpe65 is strongly associated with membranes but contains no membrane-spanning segments...

b>Rpe65(-/-) mice are unable to produce 11-cis-retinal, the chromophore of visual pigments. Consequently, the pigment is present as the apoprotein opsin with a minute level of pigment containing 9-cis-retinal as chromophore...

We used multiplex PCR follwed by sequencing to screen for mutations in the 14 exons of the RPE65 gene in early-childhood-onset autosomal recessive retinitis pigmentosa (arRP) and Leber's congenital amaurosis (LCA) patients...

..We identified an apparently homozygous loss-of-function mutation of RPE65 (1p31) in one retinal dystrophy patient and an apparently homozygous loss-of-function mutation of MERTK (2q14...

To assess the frequency of mutations in the CRX, GUCY2D, and RPE65 genes in patients with Leber congenital amaurosis (LCA).

..To identify the molecular basis of Leber's congenital amaurosis (LCA) in a cohort of Italian patients and to perform genotype-phenotype analysis...

..The RPE expresses a tissue-specific and evolutionarily highly conserved 61 kD protein (RPE65) present at high levels in vivo...

..in rhodopsin (S334ter); and a mouse model of recessive disease (rd12) caused by a PTC in the retinoid isomerase Rpe65. Initial luciferase reporter assays were undertaken to measure the efficiency of gentamicin-induced read-through ..

b>RPE65 is an essential molecule in the retinoid-visual cycle, and RPE65 gene mutations cause the congenital human blindness known as Leber congenital amaurosis (LCA)...

..and CD44 antigen (CD44) has been observed during retinal degeneration in mice with a targeted disruption of the Rpe65 gene (Rpe65-/- mouse)...

Mice with a targeted disruption of the gene encoding RPE65, a protein ordinarily highly expressed in the retinal pigment epithelium (RPE), accumulate abnormally high levels of all-trans retinyl ester in the RPE and exhibit very little 11-..

..Using the Rpe65(R91W/R91W) mouse, which carries a mutation in the Rpe65 gene leading to progressive photoreceptor degeneration in ..

b>p63, a member of the p53 family of genes, is vital for normal epithelial development and may play a critical role in epithelial tumor formation...

..Based on these reconstructions of ionic currents, learning-induced enhancement of the long lasting depolarization (LLD) of the photoreceptor'slight response was shown to arise from progressive inactivation of /A, lca2+ -K+, and lCa2+.

b>p63 contributes to skeletal development and tumor formation; however, little is known regarding its activity in the context of bone and soft tissue neoplasms...

..A recently identified basal cell marker p63, a p53 homologue, stains basal cell nuclei but not secretory cells...

b>p63 is a p53-related DNA-binding protein that helps regulate differentiation and proliferation in epithelial progenitor cells. Its expression has never been evaluated in the human gastrointestinal tract...

..The diagnosis may be even more challenging in needle core biopsies. Immunohistochemical expression of p63 and c-kit distinguishes adenoid cystic carcinoma from invasive cribriform carcinoma and ductal carcinoma in situ...

..types, and significance analysis of microarray identified several genes including TP73L (encoding the p63 protein) that are significantly highly expressed in GCTOB relative to these other tumors...

The purpose of this study was to determine the extent of p63 immunoreactivity in the malignant salivary gland neoplasms adenoid cystic carcinoma (ACC) and polymorphous low-grade adenocarcinoma (PLGA) and to compare this to the expression ..

..Lately, p63 antibody has been used for distinguishing squamous cell carcinoma from SCLC and adenocarcinoma...

To assess the efficacy of AAV-mediated gene therapy to restore vision in a large number of RPE65(-/-) dogs and to determine whether systemic and local side effects are caused by the treatment.

Immunohistochemical determination of p63 protein is frequently used in the pathologic diagnosis of nonhematological solid tumors...

..Cases were stained with AE1/3, chromogranin, CD56, synaptophysin, PGP9.5, TTF1, p16, p63, CK7, CK20, neurofilament, and CD99...

We wish to identify transcriptional factors involved in regulation binding to the proximal promoter region of the RPE65 gene that confers RPE-specific expression.

Retinal pigment epithelium-specific protein 65 kDa (RPE65) is a key enzyme for the visual cycle in the eye. Rpe65(-/-) mice lack 11-cis-retinal, and show early cone degeneration and mislocalization of cone opsins...

Pathogenesis in the Rpe65(-/-) mouse model of Leber's congenital amaurosis (LCA) is characterized by a slow and progressive degeneration of the rod photoreceptors. On the opposite, cones degenerate rapidly at early ages...

b>p63 is a p53 homologue that is mapped to chromosome 3q27. This gene encodes six different isoforms, which have either transactivating or dominant negative effects on p53-reporter genes...

b>p63 mutations have been associated with EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand-split foot malformation (SHFM)...

..EEC syndrome has been linked to chromosome 3q27 and heterozygous p63 mutations were detected in unrelated EEC families...

..b>p63 is a transcription factor essential for proliferation of stem cells and for stratification in epithelia, mutated in ..

..Detection and grading of early squamous intraepithelial neoplasia may at times be problematic. The aim of this study was to examine the ability of immunomarkers GLUT1, phospho-histone H1 and p63 to detect such early lesions.

b>p63 is a member of the p53 protein family that regulates differentiation and morphogenesis in epithelial tissues and is required for the formation of squamous epithelia...

..sent to our consultation service in 2006 from a single institution, which frequently uses a triple cocktail stain [p63, high molecular weight cytokeratin (HMWCK), alpha-methyl acyl-Coa racemase (AMACR)]...

Background and Purpose : The pattern and distribution of p63 expression as a myoepithelial/basal stem cell marker can be different between atypical ductal hyperplasia (ADH), ductal carcinoma in situ (DCIS) and invasive ductal carcinoma (..

..inhibitor of apoptosis protein (XIAP), the most potent of the inhibitor of apoptosis protein (IAP) family, and p63, a marker of bronchial reserve cells (BRC) and squamous cells, in these entities...

..In mice without a functional Rpe65 gene, isomerization of all-trans- to 11-cis-retinol is blocked...

There is increasing evidence that p63, and specifically DeltaNp63, plays a central role in both development and tumorigenesis by promoting epithelial cell survival...

b>p63 is a homologue of the tumour suppressor gene p53, which is expressed in human basal squamous epithelium...

..One protein that plays an important role in regulating epithelial proliferation and differentiation is the 63-kDa membrane protein (p63), which is also a marker of basal and reserve cells in the female genital tract.

To study whether C57BL/6J-Tyr/J (C2J) mouse embryonic stem (ES) cells can differentiate into retinal pigment epithelial (RPE) cells in vitro and then restore retinal function in a model for retinitis pigmentosa: Rpe65/Rpe65 C57BL6 mice.

Both the epidermal growth factor receptor (EGFR) and the p53 homologue p63 are overexpressed in a significant number of cases of head and neck squamous cell carcinoma (HNSCC)...

..SHFM-IV and Ectrodactyly-Ectodermal dysplasia-Cleft lip (EEC) are caused by mutations in p63, an ectoderm-specific p53-related transcription factor...

b>RPE65 has been shown to be essential for the production of 11-cis retinal by the retinal pigment epithelium. Mutations in RPE65 are known to be associated with severe forms of early-onset retinal dystrophy...

..Thus, a second method of identifying basal cells might prove useful. Selective expression of p63, a homologue of p53, has been demonstrated in prostatic basal cells...

..We have demonstrated the role of p63 and thyroid transcription factor-1 (TTF-1) in the differential diagnosis of poorly differentiated squamous-cell ..

To investigate the value of detection of AMACR (P504S), P63 and 34betaE12 cocktail in the early diagnosis of prostate cancer (PCa).

..A member of the p53 family of genes, p63, is highly expressed in the basal layers of epithelial tissues and plays a key role in maintaining their cell ..

..Alteration in autofluorescence reflects changes in lipofuscin content of the RPE. Mutations on both alleles of RPE65 result in absent or largely decreased formation of rhodopsin, due to a defect in all-trans retinol isomerization ..

Retinal pigment epithelium-specific protein 65 kDa (RPE65) is a protein responsible for isomerization of all-trans-retinaldehyde to its photoactive 11-cis-retinaldehyde and is essential for the visual cycle...

..Several lines of evidence implicate genetic factors in the formation of BEEC. Among them a murine p63+/+ knockout model showed the full picture of classic exstrophy of the bladder and other urogenital defects within ..

BACKGROUND: The p53 gene family consists of the three genes p53, p63 and p73, which have polyhedral non-overlapping functions in pivotal cellular processes such as DNA synthesis and repair, growth arrest, apoptosis, genome stability, ..

..In the present study, we investigated the possible role and evolutionary origin of the BCO/RPE65 family in the visual cycle by analyzing Ci-BCO localization by immunohistochemistry and by identifying a novel ..

b>RPE65 is essential for isomerization of vitamin A to the visual chromophore...

The p63 gene encodes six protein isoforms. The transactivating isoforms have similar actions with p53, while the N-isoforms inhibit transcription activation by p53 and transactivating isoforms...

..To test the hypothesis that the extent of outer retina uptake of manganese, measured noninvasively with manganese-enhanced MRI (MEMRI), is a quantitative biomarker of photoreceptor ion channel regulation by visual cycle activity...

The E3 ubiquitin ligase Itch mediates the degradation of the p63 protein. Itch contains four WW domains which are pivotal for the substrate recognition process...

b>RPE65, a major retinal pigment epithelium protein, is essential in generating 11-cis retinal, the chromophore for all opsins. Without chromophore, cone opsins are mislocalized and cones degenerate rapidly (e.g., Rpe65(-/-) mouse)...

To clone and characterize the canine RPE65 cDNA from normal dog, examine for mutations, and establish if the mutation identified in Swedish briard dogs with retinal dystrophy is present in dogs of the same breed that originated from the ..

b>p63 is a type II integral membrane protein that has previously been suggested to be a resident protein of a membrane network interposed between the ER and the Golgi apparatus...

This study showed increased expression of p63 and survivin in cholesteatoma. Our finding indicates a putative role of p63 and survivin in the development of certain cholesteatomas.

b>RPE65 function is necessary in the retinal pigment epithelium (RPE) to generate chromophore for all opsins. Its absence results in vision loss and rapid cone degeneration...

..Leber congenital amaurosis (LCA) is a molecularly heterogeneous disease group that leads to blindness. LCA caused by RPE65 mutations has been studied in animal models and vision has been restored by subretinal delivery of AAV-RPE65 ..

b>p63 plays a key role in epithelial development in various organs, being expressed in myoepithelial cells and in basal cells of stratified epithelia...

..Accurate classification, especially the distinction of UC from RCC, is critical, as therapeutic approaches differ...

..We evaluated the utility of a battery of immunohistochemical markers, including podoplanin (D2-40), CD10, p63, and wide-spectrum cytokeratin, for distinguishing cutaneous epithelioid and spindle cell tumors...

..stem cell or reserve cell populations in several epithelia including prostate has been shown to be regulated by p63 and alteration of p63 expression is considered to have an oncogenic role in prostate cancer...

The p53 family of transcription factors--comprising p53, p63 and p73--plays an important role in tumor prevention and development...

b>P63, a member of the P53 tumor suppressor family, is known to play important functions in cancer and development...

Mice lacking retinal pigment epithelium-specific 65-kDa protein (RPE65) develop retinopathy and blindness resembling Leber congenital amaurosis...

The aim of the study was to explore the expression profile of p63, p73 and their delta isoforms in the retinoblastoma tumor samples and to correlate with clinicopathological parameters...

To describe the ocular phenotype of patients with RPE65 mutations in infancy and young childhood.

....

b>p63, a member of p53 family, has a significant role in the development and maintenance of stratified epithelia...

b>RPE65 is a membrane-associated protein abundantly expressed in the retinal pigment epithelium, which converts all-trans-retinyl ester to 11-cis-retinol, a key step in the retinoid visual cycle...

..the identification of p73, a second homologue of the human p53 tumor suppressor gene has been reported and named p63/p73L/p51/p40/CUSP/KET...

The p53 protein is related by sequence homology and function to the products of two other genes, p63 and p73, that each encode several isoforms...

b>p63 is a recently identified homolog of p53 that is found in the basal layer of several stratified epithelial tissues such as the epidermis, oral mucosa, prostate, and urogenital tract...

b>P63 is a member of the p53 family. This protein is crucial for the maintenance of a stem cell population in the human epithelium and necessary for the normal development of all epithelial tissues including mammary glands...

..The aim of this study was to identify the value of p63 immunocytochemical analysis in this distinction.

..b>RPE65, one of these mutated genes, is highly expressed in the retinal pigment epithelium where it encodes the retinoid ..

The proteins p53, p63 and p73 are known to be overexpressed and to play important roles in the pathogenesis of many tumours, but the expression of p63 and p73 has not previously been investigated in extramammary Paget's disease (EMPD).

..hyperplasia (HP), mild dysplasia (MD), moderate-to-severe dysplasia (MSD) and squamous cell carcinoma (SCC)] was investigated and correlated to the expression of maspin-regulating factors p53 and p63, and the proliferation marker Ki-67.

..The purpose of this study was to evaluate the role of p63 and podoplanin (D2-40) immunoreactivity for separating primary skin tumors vs...

..In some of the genetic subtypes of LCA (e.g. RPE65), viable photoreceptors and a relatively intact retina have been discovered...

..Recent studies have shown that mutations in RPE65, a gene that codes for a retinal pigment epithelium (RPE)-specific protein thought to be involved in the 11-cis-..

To quantify the residual vision in Leber congenital amaurosis (LCA) caused by RPE65 mutations.

Protein expression of p63 is used to differentiate prostate cancer from benign mimickers...

To evaluate the application of CXC chemokine receptor-4 (CXCR4) combined with alpha-methylacyl-CoA racemase (P504S) or P63 protein in the differential diagnosis of benign and malignant prostatic diseases.

The RPE65 gene encodes a 65-kDa microsomal protein expressed exclusively in retinal pigment epithelium (RPE)...

..To investigate the rules of proliferation of epithelial cells of sweat glands in deep partial-thickness burn wound and its transdifferentiation towards epidermal cells during healing process to explore its mechanisms...

..vector transduction is altered by a previous intravitreal injection in the partner eye and more importantly whether therapeutic efficiency is altered in the rd12 mouse (with a recessive RPE65 mutation) after the same injection series.

..An equivalent gene for guarding the male germ line is currently not known. Here we identify hitherto unknown human p63 transcripts with unique 5'-ends derived from incorporated exons upstream of the currently mapped TP63 gene...

b>RPE65 is essential for the generation of 11-cis retinal. Rod photoreceptors in the RPE65-knockout (Rpe65(-/-)) mouse are known to degenerate slowly with age...

b>P63 is a member of the p53 family, which plays a role in the differentiation of urothelium and is supposed to play a role in urothelial carcinogenesis...

Membrane-bound RPE65 (mRPE65) is a binding protein for all-trans-retinyl esters, which are the substrates for the isomerization reaction that completes the visual cycle. RPE65 is essential for rhodopsin regeneration and, hence, for vision...

..gene family members during invertebrate embryonic development, we used polymerase chain reaction (PCR) to identify p63/73 homologues in the marine mollusc Spisula solidissima...

The p63 and p73 genes are members of the p53 family and play an important role in stem cell identity and cellular differentiation and are expressed in basal and myoepithelial cells...

p53-Related genes, p73 and p63, encode 2 classes of proteins, TA-p73/p63 and DeltaN-p73/p63...

b>P63, a p53 homologue, is considered to be a marker of myoepithelial cells in breast tissue...

..rod-cone degeneration prcd, early retinal degeneration erd, cone degeneration cd, and the newly available RPE65 mutant dog strain), together with appropriate nonaffected control dogs, will be bred and maintained...

..Virtually nothing is known about regulation of the visual cycle. Two recent observations in our laboratory on rpe65-/- knockout mice and cultured RPE cells showed light-mediated mobilization of retinyl esters...

Protein RPE65 plays a role in recycling of 11-cis retinal and thus, is essential for regeneration of visual pigments in photoreceptors. Defects in RPE65 genes are associated with several forms of retinal dystrophies...

..b>RPE65 is a membrane-associated protein predominantly expressed in the retinal pigment epithelium (RPE)...

..leukemia in the soft-shell clam, Mya arenaria, in which clam homologs that we have identified for human p53 and p63/73 proteins are rendered non-functional by their sequestration in the cytoplasm of leukemic clam hemocytes...

..the membrane associated form (mRPE65) which stereospecifically binds tREs and the soluble form of this protein (sRPE65) is shown to stereospecifically bind vitamin A with high affinity...

....

....

..Using knockout mice, we recently identified the Perp tetraspan membrane protein as a component of the p63 stratified epithelial development program, where it plays an essential role in desmosome function and epithelial ..

..Using knockout mice, we recently identified the Perp tetraspan membrane protein as a component of the p63 stratified epithelial development program, where it plays an essential role in desmosome function and epithelial ..

..The p63 gene is selectively expressed in basal cells of various epithelia and is required for epithelial development...

..b>RPE65 is a protein predominantly expressed in the RPE and essential for regeneration of 11-cis retinal...

..b>RPE65 is a protein predominantly expressed in the RPE and essential for regeneration of 11-cis retinal...

..As in the abcr-/- and rpe65-/- models, these studies should help clarify the underlying defect and lead to pharmaceutical interventions...

..either to lack certain transduction proteins such as the guanylyl cyclase activating proteins (GCAPs) or the RPE65 retinal isomerase, or to contain transduction proteins with site-directed mutations, such as phosphodiesterase ..

..We have recently demonstrated that the transcription factor p63 is the molecular switch for initiation of the epidermal stratification program...

..on the study of the interaction of this ligand with the various rod and cone opsins and the role of one protein, RPE65, which is critical for the generation of the form of retinal that binds to those opsins, the 11-cis isomer...

..the cellular all-trans retinal dehydrogenase, and the retinal pigment epithelium dioxygenase homologue, RPE65. The research will impact on visual health as follows...

..Therefore, I propose 1) to generate and characterize transgenic mice expressing RPE-specific Cre driven by RPE65 promoter; 2) to generate RPE-specific PI3K and/or Bcl-x null mice and test the hypothesis that PI3K and BCl-xL are ..

..How DNA damage triggers the death of these arrested oocytes is poorly understood but we now know that p63, a homolog of the p53 tumor suppressor, is highly expressed in these oocytes and plays an essential role in their ..

..Virtually nothing is known about regulation of the visual cycle. Two recent observations in our laboratory on rpe65-/- knockout mice and cultured RPE cells showed light-mediated mobilization of retinyl esters...

..Stargardt's disease, the RS-1 knock out mouse, a model for X-linked Retinoschisis, the rd12 mouse, a model for RPE65 LCA, the LRAT knock out mouse, a model for recessive childhood RP, the Cpfl3 mouse, a model for Achromotopsia 2 (..

..disease, the RS-1 knock out mouse, a model for X-linked Retinoschisis, the rd12 mouse, a model for RPE65 LCA, the LRAT knock out mouse, a model for recessive childhood RP, the Cpfl3 mouse, a model for Achromotopsia 2 (..

..Furthermore, EGFR TKIs induce PUMA through the effects on the p53 family members p63 and p73, but not p53 itself...

..demonstrated that developmental exposure to DES induces cervical/vaginal adenosis by disrupting expression of p63 transcription factor, which is essential for development of squamous epithelia...

..gene delivery to the retina of patients with blindness from Leber congenital amaurosis (LCA) and mutations in the RPE65 (retinal pigment epithelium-specific protein 65-kDa) gene...